General News

Massimo’s Mission has LIFT OFF!

Feb 29, 2020 | General News

Massimo’s Mission has LIFT OFF! Massimo’s Mission, a clinical and research program in childhood leukodystrophies, is now recruiting Australians facing challenges in obtaining a confirmed genetic diagnosis for a suspected leukodystrophy.

Massimo’s Mission is a collaboration between RVA Partner, the Mission Massimo Foundation, Royal Children’s Hospital, Murdoch Children’s Research Institute, Australian Genomics, The University of Queensland – Australian Institute for Bioengineering & Nanotechnology and University of New South Wales – Translational Neuroscience Facility. The program includes Genomic Diagnosis and Patient Bioregistry initiatives comprising the EWACS, PRISM and BLACKJACK projects.

EWACS utilises the latest clinical genomic sequencing technology to provide the most comprehensive analysis of all clinically relevant genes for rapid diagnosis of leukodystrophies of known genetic cause. Regardless of whether a specific treatment is available, faster diagnosis leads to accurate genetic and prognostic counselling and improved patient outcomes through tailored intervention and supportive care. It limits unnecessary testing which is often invasive, inefficient and expensive.

PRISM utilises advanced research genomic technologies including a familial trio approach to lead to gene discovery for childhood leukodystrophies of previously unknown cause. Until recently almost 50% of childhood leukodystrophies remained without a genetic diagnosis. This project aims to reduce the proportion of these undiagnosed cases to < 10%.

BLACKJACK will be the Australian bioregistry for patients with leukodystrophies. It will contain clinical and imaging data as well as a patient samples for testing and research. In collaboration with the Global Leukodystrophy Initiative, it will utilise data from international bioregistries in the United States and the European Union to further boost diagnostic yields. Registries such as this are absolutely essential for rare diseases to facilitate better understanding of natural history, collaboration for gene discovery, development of novel treatments and multi-centre trials and support for patients and their clinicians.

For further information or to enrol please contact Eloise Uebergang – Clinical Research Coordinator of Massimo’s Mission at the Royal Children’s Hospital / Murdoch Children’s Research Institute:

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